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Aliases for TLR1 Gene

Aliases for TLR1 Gene

  • Toll Like Receptor 1 2 3 5
  • Toll/Interleukin-1 Receptor-Like Protein 3 4
  • Toll-Like Receptor 1 2 3
  • TIL 3 4
  • CD281 Antigen 4
  • TIL. LPRS5 3
  • KIAA0012 4
  • Rsc786 3
  • CD281 3

External Ids for TLR1 Gene

Previous GeneCards Identifiers for TLR1 Gene

  • GC04P039090
  • GC04M038961
  • GC04M038632
  • GC04M038695
  • GC04M038620
  • GC04M038474
  • GC04M038122

Summaries for TLR1 Gene

Entrez Gene Summary for TLR1 Gene

  • The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for TLR1 Gene

TLR1 (Toll Like Receptor 1) is a Protein Coding gene. Diseases associated with TLR1 include Leprosy 5 and Lyme Disease. Among its related pathways are TRAF Pathway and Bacterial infections in CF airways. GO annotations related to this gene include protein heterodimerization activity and transmembrane signaling receptor activity. An important paralog of this gene is TLR6.

UniProtKB/Swiss-Prot for TLR1 Gene

  • Participates in the innate immune response to microbial agents. Specifically recognizes diacylated and triacylated lipopeptides. Cooperates with TLR2 to mediate the innate immune response to bacterial lipoproteins or lipopeptides (PubMed:21078852). Forms the activation cluster TLR2:TLR1:CD14 in response to triacylated lipopeptides, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway (PubMed:16880211). Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response.

Tocris Summary for TLR1 Gene

  • Toll-like receptors (TLRs) are single transmembrane cell-surface receptors, which have a key role in the innate immune system. TLRs generally exist as homodimers (heterodimers have been reported) and are found on immune cells; macrophages, B lymphocytes and mast cells.

Gene Wiki entry for TLR1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TLR1 Gene

Genomics for TLR1 Gene

Regulatory Elements for TLR1 Gene

Enhancers for TLR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G038785 1.6 FANTOM5 Ensembl ENCODE dbSUPER 45.3 +70.7 70686 2.1 ELF3 FOXA2 THRB YY1 RARA ZNF143 ETV6 CREM MIXL1 CBFB TLR1 TLR6 MIR574 FAM114A1 KLF3 TLR10
GH04G038855 1.7 FANTOM5 ENCODE dbSUPER 28.5 -0.5 -480 4.0 ATF1 PKNOX1 CREB3L1 ARNT SIN3A TCF12 GTF3C2 ZNF766 GATA2 CBX5 TLR6 TLR1 ZBTB12BP HNRNPRP3 FAM114A1 KLF3 KLHL5
GH04G038759 1.5 FANTOM5 Ensembl ENCODE 30 +94.9 94885 5.1 HDGF TBP TBL1XR1 WRNIP1 BMI1 YBX1 RAD21 RELB ETV6 IKZF2 TLR1 TLR6 TLR10 FAM114A1 MIR574 KLF3 RNA5SP158
GH04G038803 1.4 Ensembl ENCODE dbSUPER 27.2 +51.5 51494 3.4 TBP PKNOX1 TBL1XR1 WRNIP1 YBX1 RAD21 ZBTB40 CBX5 ZNF143 ZNF207 TLR1 TLR6 TLR10 FAM114A1 MIR574 ENSG00000249207 ENSG00000249685
GH04G038528 1.6 FANTOM5 Ensembl ENCODE 19.7 +327.1 327117 1.8 HDGF PKNOX1 CREB3L1 ARNT ZNF766 CBX5 KLF13 JUNB REST ZNF592 TLR6 TLR1 KLF3 LINC01258 LINC02278
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TLR1 on UCSC Golden Path with GeneCards custom track

Promoters for TLR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000167553 1500 1401 TBP PKNOX1 TBL1XR1 WRNIP1 YBX1 ZBTB40 RAD21 CBX5 ZNF143 ZNF207

Genomic Location for TLR1 Gene

Chromosome:
4
Start:
38,787,555 bp from pter
End:
38,856,817 bp from pter
Size:
69,263 bases
Orientation:
Minus strand

Genomic View for TLR1 Gene

Genes around TLR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TLR1 Gene

Proteins for TLR1 Gene

  • Protein details for TLR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15399-TLR1_HUMAN
    Recommended name:
    Toll-like receptor 1
    Protein Accession:
    Q15399
    Secondary Accessions:
    • D1CS39
    • D1CS41
    • O15452
    • Q32MK3
    • Q32MK4
    • Q9UG90

    Protein attributes for TLR1 Gene

    Size:
    786 amino acids
    Molecular mass:
    90291 Da
    Quaternary structure:
    • Interacts (via extracellular domain) with TLR2. TLR2 seems to exist in heterodimers with either TLR1 or TLR6 before stimulation by the ligand. The heterodimers form bigger oligomers in response to their corresponding ligands as well as further heterotypic associations with other receptors such as CD14 and/or CD36 (PubMed:16880211, PubMed:17889651). The activation cluster TLR2:TLR1:CD14 forms in response to triacylated lipopeptides (PubMed:16880211). Binds MYD88 (via TIR domain). Interacts with CNPY3 (By similarity).
    SequenceCaution:
    • Sequence=BAA02801.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TLR1 Gene

neXtProt entry for TLR1 Gene

Post-translational modifications for TLR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TLR1 (TLR1)

Assay Products

  • Cloud-Clone Corp. Assay Kits for TLR1

No data available for DME Specific Peptides for TLR1 Gene

Domains & Families for TLR1 Gene

Gene Families for TLR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15399

UniProtKB/Swiss-Prot:

TLR1_HUMAN :
  • Belongs to the Toll-like receptor family.
Family:
  • Belongs to the Toll-like receptor family.
genes like me logo Genes that share domains with TLR1: view

Function for TLR1 Gene

Molecular function for TLR1 Gene

GENATLAS Biochemistry:
Drosophila transmembrane receptor Toll homolog 1,ubiquitously expressed,with at least two alternatively spliced isoforms,tissue specific,maybe involved in morphogenesis and immune defense
UniProtKB/Swiss-Prot Function:
Participates in the innate immune response to microbial agents. Specifically recognizes diacylated and triacylated lipopeptides. Cooperates with TLR2 to mediate the innate immune response to bacterial lipoproteins or lipopeptides (PubMed:21078852). Forms the activation cluster TLR2:TLR1:CD14 in response to triacylated lipopeptides, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway (PubMed:16880211). Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response.

Gene Ontology (GO) - Molecular Function for TLR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 10426995
GO:0004888 transmembrane signaling receptor activity NAS 11081518
GO:0005515 protein binding IPI 16880211
GO:0035663 Toll-like receptor 2 binding IPI 16880211
GO:0046982 protein heterodimerization activity IDA 17889651
genes like me logo Genes that share ontologies with TLR1: view
genes like me logo Genes that share phenotypes with TLR1: view

Animal Models for TLR1 Gene

MGI Knock Outs for TLR1:

Animal Model Products

CRISPR Products

miRNA for TLR1 Gene

miRTarBase miRNAs that target TLR1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TLR1
  • Applied Biological Materials Clones for TLR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TLR1 Gene

Localization for TLR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLR1 Gene

Cell membrane; Single-pass type I membrane protein. Cytoplasmic vesicle, phagosome membrane; Single-pass type I membrane protein. Membrane raft. Golgi apparatus. Note=Does not reside in lipid rafts before stimulation but accumulates increasingly in the raft upon the presence of the microbial ligand. In response to triacylated lipoproteins, TLR2:TLR1 heterodimers are recruited in lipid rafts, this recruitment determine the intracellular targeting to the Golgi apparatus. {ECO:0000269 PubMed:16880211}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TLR1 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
extracellular 2
endoplasmic reticulum 2
endosome 2
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TLR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA,IDA 16880211
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9435236
GO:0016020 membrane NAS 11081518
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TLR1: view

Pathways & Interactions for TLR1 Gene

genes like me logo Genes that share pathways with TLR1: view

Gene Ontology (GO) - Biological Process for TLR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001775 cell activation IDA 15294986
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0002376 immune system process IEA --
GO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS --
GO:0006952 defense response IEA --
genes like me logo Genes that share ontologies with TLR1: view

No data available for SIGNOR curated interactions for TLR1 Gene

Drugs & Compounds for TLR1 Gene

(12) Drugs for TLR1 Gene - From: ApexBio, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
CU CPT 22 Pharma Selective TLR1/2 inhibitor 0
CU CPT 4a Pharma Selective TLR3 inhibitor 0
Pam3CSK4 Pharma TLR1/2 agonist; induces cytokine production 0
Poly(I:C) Pharma TLR3 agonist 0
Pam2CSK4 Pharma 0

(2) Additional Compounds for TLR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for TLR1 Gene

Compound Action Cas Number
CU CPT 22 Selective TLR1/2 inhibitor 1416324-85-0
CU CPT 4a Selective TLR3 inhibitor 1279713-77-7
Pam3CSK4 TLR1/2 agonist; induces cytokine production 112208-00-1
Poly(I:C) TLR3 agonist 24939-03-5
Resiquimod Toll-like receptor 7 (TLR7) agonist 144875-48-9

(9) ApexBio Compounds for TLR1 Gene

Compound Action Cas Number
CU CPT 22 1416324-85-0
CU CPT 4a 1279713-77-7
Pam2CSK4 868247-72-7
Pam2CSK4 Biotin
Pam3CSK4 112208-00-1
Pam3CSK4 Biotin
Poly(I:C) 24939-03-5
RWJ 21757 121288-39-9
Toll-like receptor modulator TLR antagonist 926927-42-6
genes like me logo Genes that share compounds with TLR1: view

Drug Products

Transcripts for TLR1 Gene

Unigene Clusters for TLR1 Gene

Toll-like receptor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TLR1
  • Applied Biological Materials Clones for TLR1

Alternative Splicing Database (ASD) splice patterns (SP) for TLR1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e · 6f
SP1: -
SP2: - -
SP3: - -
SP4: - - - - - -
SP5: - - - -
SP6: - - -
SP7: -
SP8: - - - - -

Relevant External Links for TLR1 Gene

GeneLoc Exon Structure for
TLR1
ECgene alternative splicing isoforms for
TLR1

Expression for TLR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TLR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TLR1 Gene

This gene is overexpressed in Whole Blood (x26.6).

Protein differential expression in normal tissues from HIPED for TLR1 Gene

This gene is overexpressed in Monocytes (58.7) and CD8 Tcells (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TLR1 Gene



Protein tissue co-expression partners for TLR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TLR1 Gene:

TLR1

SOURCE GeneReport for Unigene cluster for TLR1 Gene:

Hs.654532

mRNA Expression by UniProt/SwissProt for TLR1 Gene:

Q15399-TLR1_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in spleen, ovary, peripheral blood leukocytes, thymus and small intestine.

Evidence on tissue expression from TISSUES for TLR1 Gene

  • Blood(4.6)
  • Bone marrow(4.4)
  • Liver(4.3)
  • Nervous system(4.3)
  • Spleen(2.9)
  • Lymph node(2.7)
  • Intestine(2.4)
  • Lung(2)
genes like me logo Genes that share expression patterns with TLR1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TLR1 Gene

Orthologs for TLR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TLR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TLR1 34 35
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia TLR1 34 35
  • 85.54 (n)
rat
(Rattus norvegicus)
Mammalia Tlr1 34
  • 78.42 (n)
mouse
(Mus musculus)
Mammalia Tlr1 34 16 35
  • 77.1 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 60 (a)
OneToMany
chicken
(Gallus gallus)
Aves TLR1LA 35
  • 48 (a)
ManyToMany
TLR1LB 35
  • 48 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 49 (a)
ManyToMany
-- 35
  • 48 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tlr1 34
  • 54.94 (n)
zebrafish
(Danio rerio)
Actinopterygii tlr1 34 35
  • 48.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta Toll-9 35
  • 18 (a)
OneToMany
Species where no ortholog for TLR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TLR1 Gene

ENSEMBL:
Gene Tree for TLR1 (if available)
TreeFam:
Gene Tree for TLR1 (if available)

Paralogs for TLR1 Gene

Paralogs for TLR1 Gene

Pseudogenes.org Pseudogenes for TLR1 Gene

genes like me logo Genes that share paralogs with TLR1: view

Variants for TLR1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TLR1 Gene

TLR1_HUMAN-Q15399
Genetic variations in TLR1 may influence susceptibility to or protection against contracting leprosy and define the leprosy susceptibility locus 5 [MIM:613223]. Ser-602 is a common allele in Caucasians. It is associated with impaired cell surface expression and receptor function resulting in protection against leprosy.

Sequence variations from dbSNP and Humsavar for TLR1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs55812771 Benign 38,797,285(+) ACCTC(A/T)TCTTC nc-transcript-variant, reference, missense
rs773733396 Benign 38,797,418(+) GAGTT(A/C/T)TTGCA nc-transcript-variant, reference, missense, stop-gained
rs786201033 Benign 38,798,034(-) CTCCA(A/G)CTGGT nc-transcript-variant, reference, synonymous-codon
rs786201035 Benign 38,797,328(-) ATTCA(A/G)TTTCC nc-transcript-variant, reference, missense
rs786201036 Benign 38,797,285(-) GAAGA(A/T)GAGGT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TLR1 Gene

Variant ID Type Subtype PubMed ID
esv3600264 CNV loss 21293372
esv3600265 CNV loss 21293372
esv3893918 CNV loss 25118596
nsv594010 CNV loss 21841781
nsv966262 CNV duplication 23825009

Variation tolerance for TLR1 Gene

Residual Variation Intolerance Score: 96.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.47; 71.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TLR1 Gene

Human Gene Mutation Database (HGMD)
TLR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLR1

Disorders for TLR1 Gene

MalaCards: The human disease database

(17) MalaCards diseases for TLR1 Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leprosy 5
  • leprosy, protection against
lyme disease
  • bannwarth syndrome
melioidosis
  • melioidosis, susceptibility to melioidosis, resistance to, included
penicilliosis
ocular toxoplasmosis
  • toxoplasmosis ocular
- elite association - COSMIC cancer census association via MalaCards
Search TLR1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TLR1

Genetic Association Database (GAD)
TLR1
Human Genome Epidemiology (HuGE) Navigator
TLR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TLR1
genes like me logo Genes that share disorders with TLR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TLR1 Gene

Publications for TLR1 Gene

  1. Variants in toll-like receptors 2 and 9 influence susceptibility to pulmonary tuberculosis in Caucasians, African-Americans, and West Africans. (PMID: 19771452) Velez D.R. … Scott W.K. (Hum. Genet. 2010) 3 22 46 64
  2. Polymorphism N248S in the human Toll-like receptor 1 gene is related to leprosy and leprosy reactions. (PMID: 19456232) Schuring R.P. … Oskam L. (J. Infect. Dis. 2009) 3 4 46 64
  3. Gene polymorphisms of Toll-like and related recognition receptors in relation to the vaginal carriage of Gardnerella vaginalis and Atopobium vaginae. (PMID: 19200604) Verstraelen H. … Temmerman M. (J. Reprod. Immunol. 2009) 3 22 46 64
  4. Genetic variation of the human urinary tract innate immune response and asymptomatic bacteriuria in women. (PMID: 20016852) Hawn T.R. … Hooton T.M. (PLoS ONE 2009) 3 22 46 64
  5. Polymorphisms of toll like receptors in the genetics of severe RSV associated diseases. (PMID: 18776592) Mailaparambil B. … Heinzmann A. (Dis. Markers 2008) 3 22 46 64

Products for TLR1 Gene

  • Addgene plasmids for TLR1

Sources for TLR1 Gene

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